The 22q11 2 Chromosome Deletion Syndrome

Written By Donna M. McDonald-McGinn
The 22q11  2 Chromosome Deletion Syndrome
  • Publsiher : Academic Press
  • Release : 01 March 2020
  • ISBN : 9780128160473
  • Pages : 424 pages
  • Rating : 4/5 from 21 reviews
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Read or download book entitled The 22q11 2 Chromosome Deletion Syndrome written by Donna M. McDonald-McGinn which was release on 01 March 2020, this book published by Academic Press. Available in PDF, EPUB and Kindle Format. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this syndrome. Leading international contributors cover the background, genetics, testing methods and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making. As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases. Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making

The 22q11 2 Chromosome Deletion Syndrome

The 22q11  2 Chromosome Deletion Syndrome
  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Release Date : 2020-03
  • Total pages : 424
  • ISBN : 9780128160473
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Summary : The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this syndrome. Leading international contributors cover the background, genetics, testing methods and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for ...

DiGeorge Syndrome New Insights for the Healthcare Professional 2011 Edition

DiGeorge Syndrome  New Insights for the Healthcare Professional  2011 Edition
  • Author : Anonim
  • Publisher : ScholarlyEditions
  • Release Date : 2012-01-09
  • Total pages : 17
  • ISBN : 9780128160473
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Summary : DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DiGeorge Syndrome in a compact format. The editors have built DiGeorge Syndrome: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect ...

DiGeorge Syndrome New Insights for the Healthcare Professional 2012 Edition

DiGeorge Syndrome  New Insights for the Healthcare Professional  2012 Edition
  • Author : Anonim
  • Publisher : ScholarlyEditions
  • Release Date : 2012-12-10
  • Total pages : 16
  • ISBN : 9780128160473
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Summary : DiGeorge Syndrome: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about DiGeorge Syndrome in a compact format. The editors have built DiGeorge Syndrome: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect ...

22q11 Deletion Syndrome In Ireland

22q11 Deletion Syndrome In Ireland
  • Author : Anonim
  • Publisher : Unknown
  • Release Date : 2017
  • Total pages : 212
  • ISBN : 9780128160473
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Summary : 22q11 DELETION SYNDROME IN IRELAND u2013 REVIEW OF A NEWLY ESTABLISHED DEDICATED CLINICS. McCormacku00b9, D.Orru00b2, F.McNicholasu00b3, R. Leahyu2074, S. Kelleheru00b9u00b9Department of General/Developmental Paediatrics, Our Ladyu2019s Childrenu2019s Hospital Crumlin, Dublinu00b2Department of Plastic Surgery, Our Ladyu2019s Childrenu2019...

Theory of Mind in Youth and Emerging Adults with Chromosome 22q11 2 Deletion Syndrome with and Without Comorbid Mood Disorder

Theory of Mind in Youth and Emerging Adults with Chromosome 22q11 2 Deletion Syndrome  with and Without Comorbid Mood Disorder
  • Author : Amy K. Olszewski
  • Publisher : Unknown
  • Release Date : 2014
  • Total pages : 114
  • ISBN : 9780128160473
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Summary : Mood disorders are some of the most commonly diagnosed psychiatric disorders in childhood and adolescence. Major Depressive Disorder (MDD) and Bipolar Disorder (BPD) have become more widely recognized in children and adolescents in recent years and are especially common in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). Disruptions in ...

Immune Defects in Chromosome 22q11 2 Deletion Syndromes

Immune Defects in Chromosome 22q11 2 Deletion Syndromes
  • Author : Nicola A. Bobey
  • Publisher : Unknown
  • Release Date : 2010
  • Total pages : 76
  • ISBN : 9780128160473
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Summary : Download or read online Immune Defects in Chromosome 22q11 2 Deletion Syndromes written by Nicola A. Bobey, published by which was released on 2010. Get Immune Defects in Chromosome 22q11 2 Deletion Syndromes Books now! Available in PDF, ePub and Kindle....

SCARF2 and SNAP29

SCARF2 and SNAP29
  • Author : Vafa Keser
  • Publisher : Unknown
  • Release Date : 2019
  • Total pages : 212
  • ISBN : 9780128160473
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Summary : "22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous gene syndrome and is characterized by a 3 Mb de novo deletion of the chromosome 22q11.2 region in 90% of individuals. Patients are born with a number of congenital birth defects and malformations in various combinations that are different even within the ...

The Development of Cognitive Control and Its Neural Correlates in Children with Chromosome 22q11 2 Deletion Syndrome

The Development of Cognitive Control and Its Neural Correlates in Children with Chromosome 22q11 2 Deletion Syndrome
  • Author : Heather Mehle Shapiro
  • Publisher : Unknown
  • Release Date : 2013
  • Total pages : 212
  • ISBN : 9780128160473
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Summary : Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is a neurogenetic disorder that is associated with cognitive dysfunction and significantly elevated risk for developing schizophrenia. A better understanding of specific neurocognitive impairments and their developmental time course would significantly clarify the nature of cognitive dysfunction in this population and help support the ...

Chromosomal Abnormalities

Chromosomal Abnormalities
  • Author : Source Wikipedia
  • Publisher : University-Press.org
  • Release Date : 2013-09
  • Total pages : 54
  • ISBN : 9780128160473
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Summary : Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 52. Chapters: Down syndrome, Turner syndrome, Trisomy, XYY syndrome, Warkany syndrome 2, Beckwith-Wiedemann syndrome, Klinefelter's syndrome, Williams syndrome, 1p36 deletion syndrome, Aneuploidy, 1q21.1 deletion syndrome, Edwards syndrome, Philadelphia chromosome, Patau syndrome, 22...

Neurogenetic Developmental Disorders

Neurogenetic Developmental Disorders
  • Author : Michèle M. M. Mazzocco,Judith L. Ross
  • Publisher : MIT Press
  • Release Date : 2007
  • Total pages : 507
  • ISBN : 9780128160473
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Summary : A reference to guide clinicians, researchers, teachers, and parents in identifying arange of genetic disorders despite widely variable cognitive, behavioral, and physicaleffects....

Noninfectious Immunodeficiency Related Cutaneous Conditions

Noninfectious Immunodeficiency Related Cutaneous Conditions
  • Author : Source Wikipedia
  • Publisher : University-Press.org
  • Release Date : 2013-09
  • Total pages : 146
  • ISBN : 9780128160473
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Summary : Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Pages: 26. Chapters: Bare lymphocyte syndrome, Cartilage-hair hypoplasia, CD25 deficiency, Chediak-Higashi syndrome, Chronic granulomatous disease, Common variable immunodeficiency, Complement deficiency, DiGeorge syndrome, Graft-versus-host disease, Griscelli syndrome, Hyperimmunoglobulin E syndrome, Immunodeficiency with ...

Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial DiGeorge Syndrome

Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial DiGeorge Syndrome
  • Author : Patric Olivier Eberle
  • Publisher : Unknown
  • Release Date : 2009
  • Total pages : 10
  • ISBN : 9780128160473
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Summary : Download or read online Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial DiGeorge Syndrome written by Patric Olivier Eberle, published by which was released on 2009. Get Persistent Low Thymic Activity and Non cardiac Mortality in Children with Chromosome 22q11 2 Microdeletion and Partial ...

Velo Cardio Facial Syndrome

Velo Cardio Facial Syndrome
  • Author : Robert J. Shprintzen,Karen J. Golding-Kushner
  • Publisher : Plural Publishing
  • Release Date : 2008-07-01
  • Total pages : 289
  • ISBN : 9780128160473
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Summary : Download or read online Velo Cardio Facial Syndrome written by Robert J. Shprintzen,Karen J. Golding-Kushner, published by Plural Publishing which was released on 2008-07-01. Get Velo Cardio Facial Syndrome Books now! Available in PDF, ePub and Kindle....

Educating Children with Velo Cardio Facial Syndrome 22q11 2 Deletion Syndrome and DiGeorge Syndrome Third Edition

Educating Children with Velo Cardio Facial Syndrome  22q11 2 Deletion Syndrome  and DiGeorge Syndrome  Third Edition
  • Author : Donna Cutler-Landsman
  • Publisher : Plural Publishing
  • Release Date : 2020-01-01
  • Total pages : 387
  • ISBN : 9780128160473
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Summary : The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has ...

Disruptions to the MicroRNA Regulatory Pathway are Responsible for the Inscreased Rate of Schizophrenia in Individuals with 22q11 2 Deletion Syndrome

Disruptions to the MicroRNA Regulatory Pathway are Responsible for the Inscreased Rate of Schizophrenia in Individuals with 22q11 2 Deletion Syndrome
  • Author : William Manley
  • Publisher : Unknown
  • Release Date : 2016
  • Total pages : 227
  • ISBN : 9780128160473
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Summary : Schizophrenia is a complex and poorly understood disease caused by the interplay of many environmental and genetic factors. It occurs in 1% of the general population and causes delusions, hallucinations, and disorganized behavior. The 22q11.2 deletion syndrome is a disorder that is caused by the microdeletion of part of chromosome 22 leading ...